Congenital primary aphakia

Ernst, Julia; Medsinge, Anagha; Scanga, Hannah L.; Hiasat, Jamila G.; Moore, William S.; Ali, Asim; Levin, Alex V.; Stahl, Erin D.; Nischal, Ken K.

doi:10.1016/j.jaapos.2021.09.008

Cited by 7 publications

(3 citation statements)

References 15 publications

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“…The distinction is important to help choose the correct therapeutic strategies and to counsel the parents about the anatomical and functional prognosis. In patients with CA, the outcomes of corneal transplantation are very poor, due to possible vitreous anomalies and the risk of early postoperative retinal detachment and phthisis of the eye (Chaurasia et al, 2020; Ernst et al, 2022; Thompson et al, 2018). Even when the lens is adherent to the cornea, PK often results in early rejection due to the need of concomitant lens removal and vitrectomy (Bhandari et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

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Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome

Franco

Scanga

Nischal

2022

American J of Med Genetics Pt A

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To describe the anterior segment (AS) findings in patients with microphthalmia with linear skin defects syndrome (MLS), also known as microphthalmia, dermal aplasia, and sclerocornea (MIDAS). A retrospective chart review was conducted to identify patients with a diagnosis of MLS syndrome seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, AS optical coherence tomography, and molecular testing were reviewed. Five female patients (10 eyes) were identified. One eye was anophthalmic, one was in a status post penetrating keratoplasty, and eight eyes presented with congenital corneal opacity (CCO).Of these, one showed a normal lens and a very small faint CCO; five showed congenital aphakia and characteristic silvery appearance of the cornea with vascularization; and two showed irido-corneal adhesions in association with normal or abnormal lens and localized avascular CCO. Genetic testing was performed and revealed involvement of HCCS in four patients. In MLS patients, kerato-irido-lenticular dysgenesis can be associated with secondary CCO. It is important to distinguish these CCO from sclerocornea, in order to refine the appropriate management and counseling the parents about the prognosis.congenital corneal opacities, congenital primary aphakia, MIDAS syndrome, MLS syndrome | INTRODUCTIONMicrophthalmia with linear skin defects syndrome (MLS) or microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome is a rare X-linked dominant disorder caused by pathogenic variants or copy number variants in the HCCS, COX7B, or NDUFB11 genes (van Rahden et al., 2015). The proposed diagnostic criteria include microphthalmia and/or anophthalmia as the cardinal ocular features to

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Section: Discussionmentioning

confidence: 99%

“…It is known that CA is associated with a characteristic CCO, with an extremely thin and silvery cornea, allowing a red reflex to be seen despite the corneal opacity (Ernst et al, 2022). In CPA, the lens completely fails to form.…”

Section: Discussionmentioning

confidence: 99%

Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome

Franco

Scanga

Nischal

2022

American J of Med Genetics Pt A

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“…In most studies, GDD was used after failure of the primary surgical approach (goniotomy or trabeculotomy). However, GDDs were employed as the first-line treatment in some cases in which angle surgeries have a high risk of failure, such as phakomatosis (59) , aphakic glaucoma (60,61) and aniridia (35,62) . Chen et al (13) evaluated AGV implanted as the first surgical approach in patients with PCG or JOAG (age <18 years), uveitic glaucoma, or secondary glaucoma.…”

Section: Indicationsmentioning

confidence: 99%

Glaucoma drainage devices in children: an updated review

Vasconcelos,

Massote,

Senger

et al. 2024

ABO

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Implantation of glaucoma drainage devices is a valuable therapeutic option, particularly in children with glaucoma refractory to primary surgical treatment. Glaucoma drainage devices are typically used when conjunctival scarring hampers filtration surgery or prior angle procedures are not effective in controlling intraocular pressure. Despite known complications, the use of glaucoma drainage devices in children has increased in recent years, even as the primary surgical option. In this review, we evaluate the results of recent studies involving the implantation of glaucoma drainage devices in children, discussing new advances, and comparing the success rates and complications of different devices.

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Congenital Corneal Opacities

Nischal,

Zwingelberg

2024

Infantile Anterior Segment Disorders

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Congenital primary aphakia

Cited by 7 publications

References 15 publications

Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome

Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome

Glaucoma drainage devices in children: an updated review

Congenital Corneal Opacities

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